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A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome

✍ Scribed by Carolina R. Lincoln-de-Carvalho; Fabíola M.P. Vicente; Társis A.P. Vieira; Maricilda P. de Mello; Antonia P. Marques-de-Faria

Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 197 KB
Volume: 155
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33458

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## Abstract Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri‐du‐chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of